Some of the most extreme genome wide rearrangements are found in ciliates, which are unique in possessing both germline micronucleus and somatic macronucleus in every cell/organism. A series of DNA rearrangement event...Some of the most extreme genome wide rearrangements are found in ciliates, which are unique in possessing both germline micronucleus and somatic macronucleus in every cell/organism. A series of DNA rearrangement events, including DNA elimination, chromosomal fragmentation, gene unscrambling and alternative processing, happen during macronuclear development. To assess the molecular evolution of macronuclear and germline-limited sequences in different cryptic species of Chilodonella uncinata, we characterized the actin, α-tubulin and β-tubulin genes in the micronucleus and macronucleus genomes of USA-SC2 strain and compared them with other strains(i.e. cryptic species). Three main results are:(i) rearrangement patterns between germline and soma are conserved for each gene among the cryptic species of C. uncinata;(ii) in contrast, the germlinelimited regions are highly divergent in sequence and length among the cryptic species;(iii) pointer shifting is frequent among the cryptic species. We speculate that pointer sequences may serve as the buffer between the conserved macronuclear destined sequences and rapidly-evolving internal eliminated sequences. The data combined with previous studies demonstrate the plasticity of gene rearrangement among different groups of ciliates and add to the growing data for the role of genome rearrangements in species differentiation.展开更多
目的:探讨注意缺陷多动障碍(ADHD)转换功能与NRXN1基因的关联。方法:顺序纳入符合美国精神障碍诊断与统计手册第4版(DSM-IV)ADHD诊断标准的ADHD儿童756例和年龄匹配的正常对照儿童133例。采用TMT连线测试(Trail Making Test)记录被试者...目的:探讨注意缺陷多动障碍(ADHD)转换功能与NRXN1基因的关联。方法:顺序纳入符合美国精神障碍诊断与统计手册第4版(DSM-IV)ADHD诊断标准的ADHD儿童756例和年龄匹配的正常对照儿童133例。采用TMT连线测试(Trail Making Test)记录被试者转换功能各指标,包括数字连线时间、数字连线错误次数、数字字母连线时间和数字字母连线错误次数。选择NRXN1基因的两个单核苷酸多态性(rs1592728和rs4971652)位点,利用Sequenom基因分型平台进行基因型检测。在全部ADHD病例儿童和正常对照采用多重线性回归分析基因型对ADHD转换功能的影响因素,其次,分别在ADHD组和对照组中采用多重线性回归分层分析转换功能与基因型之间的关联。结果:多重线性回归显示转换功能与年龄(β=0.42,P<0.001)、智商(β=0.34,P<0.001)、罹患ADHD(β=0.08,P=0.004)和rs4971652GG基因型(β=0.06,P=0.039)负向关联;ADHD组转换功能与年龄(β=0.46,P<0.001)、智商(β=0.32,P<0.001)、rs4971652的GG基因型(β=0.07,P=0.018)负向关联,与ADHD亚型(β=0.06,P=0.033)正向关联,ADHD-I型比ADHD-C型患儿受损严重;对照组转换功能与年龄(β=0.25,P=0.002)、智商(β=0.40,P<0.001)负向关联。结论:ADHD患儿转换功能可能与NRXN1基因SNPs存在关联,GG基因型患者转换功能受损相对轻。展开更多
基金supported by the Natural Science Foundation of China (31772428)Young Elite Scientists Sponsorship Program by CAST (2017QNRC001)+1 种基金Fundamental Research Funds for the Central Universities (201841013) to Feng Gaothe AREA award from the National Institutes of Health (1R15GM11317701) to Laura A. Katz
文摘Some of the most extreme genome wide rearrangements are found in ciliates, which are unique in possessing both germline micronucleus and somatic macronucleus in every cell/organism. A series of DNA rearrangement events, including DNA elimination, chromosomal fragmentation, gene unscrambling and alternative processing, happen during macronuclear development. To assess the molecular evolution of macronuclear and germline-limited sequences in different cryptic species of Chilodonella uncinata, we characterized the actin, α-tubulin and β-tubulin genes in the micronucleus and macronucleus genomes of USA-SC2 strain and compared them with other strains(i.e. cryptic species). Three main results are:(i) rearrangement patterns between germline and soma are conserved for each gene among the cryptic species of C. uncinata;(ii) in contrast, the germlinelimited regions are highly divergent in sequence and length among the cryptic species;(iii) pointer shifting is frequent among the cryptic species. We speculate that pointer sequences may serve as the buffer between the conserved macronuclear destined sequences and rapidly-evolving internal eliminated sequences. The data combined with previous studies demonstrate the plasticity of gene rearrangement among different groups of ciliates and add to the growing data for the role of genome rearrangements in species differentiation.
文摘目的:探讨注意缺陷多动障碍(ADHD)转换功能与NRXN1基因的关联。方法:顺序纳入符合美国精神障碍诊断与统计手册第4版(DSM-IV)ADHD诊断标准的ADHD儿童756例和年龄匹配的正常对照儿童133例。采用TMT连线测试(Trail Making Test)记录被试者转换功能各指标,包括数字连线时间、数字连线错误次数、数字字母连线时间和数字字母连线错误次数。选择NRXN1基因的两个单核苷酸多态性(rs1592728和rs4971652)位点,利用Sequenom基因分型平台进行基因型检测。在全部ADHD病例儿童和正常对照采用多重线性回归分析基因型对ADHD转换功能的影响因素,其次,分别在ADHD组和对照组中采用多重线性回归分层分析转换功能与基因型之间的关联。结果:多重线性回归显示转换功能与年龄(β=0.42,P<0.001)、智商(β=0.34,P<0.001)、罹患ADHD(β=0.08,P=0.004)和rs4971652GG基因型(β=0.06,P=0.039)负向关联;ADHD组转换功能与年龄(β=0.46,P<0.001)、智商(β=0.32,P<0.001)、rs4971652的GG基因型(β=0.07,P=0.018)负向关联,与ADHD亚型(β=0.06,P=0.033)正向关联,ADHD-I型比ADHD-C型患儿受损严重;对照组转换功能与年龄(β=0.25,P=0.002)、智商(β=0.40,P<0.001)负向关联。结论:ADHD患儿转换功能可能与NRXN1基因SNPs存在关联,GG基因型患者转换功能受损相对轻。
